Northwestern University Feinberg School of Medicine

Center for Genetic Medicine

Whole Exome Sequencing (WES)

While the protein-coding region of the genome, i.e., the exome, represents only a small portion of the genome (<2% in humans), it is the most studied and best annotated. For example, the human exome contains approximately 85% of all known disease-related variants. Due to its cost effectiveness and better data manageability, WES offers an ideal approach when whole-genome sequencing is not practical or needed.

WES enables core users to focus their resources on genes that are most likely to have an impact on the phenotype or disease of interest. By scanning through the entire amino acid coding region of the genome, it leads to identification of relevant variants across a wide range of applications, including genetic diseases, cancer development, and population genetics.

NUSeq uses a capture-based approach to target exome regions for sequencing. We use biotinylated nucleic acid baits, which are complementary to the target exome, to hybridize to genomic DNA libraries for the capture. For our WES, we only require 150 ng of high-quality human genomic DNA.

Exome Capture and Library Prep Pricing

Library prep costs are listed on the Core Pricing page.

Whole Exome Sequencing